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Updated: Jun 21, 2026

Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies
1Hemoglobinopathies Laboratory, Human and Clinical Genetics Department, Leiden University Medical Center, O&O Building, Einthovenweg 20, 2333 ZC, PO Box 9600, 2300 RC Leiden, The Netherlands. p.c.giordano@lumc.nl
Objectives:
This review emphasizes the need for adapted prevention strategies in areas where severe hemoglobin disorders are endemic and in non-endemic countries where large immigrant groups are living.
Design And Methods:
Screening versus carrier diagnostics upon medical versus ethnic indication, ethical issues associated with carrier screening, information to multiethnic carriers and practical aspects of laboratory diagnostics are discussed.
Results And Discussion:
School screening is a valid option but needs follow up until partner choice. Premarital carrier diagnostics upon ethnic indication needs motivated GP's and might implicate (female) stigmatization in particular cultures. Early pregnancy is the best moment regarding the motivation, but needs rapid molecular analysis when a couple at risk seeks prevention. Neonatal screening is feasible when the organization is already present for other diseases and may offer retrospective as well as prospective primary prevention when all carriers are reported. Problems to be expected while implementing neonatal screening are summarized.
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